Mental Retardation, X-Linked Syndromic, Christianson Type

Preferred Label : Mental Retardation, X-Linked Syndromic, Christianson Type;

NCIt synonyms : MRXSCH; Christianson Syndrome; X-Linked Syndromic Cognitive Disability, Christianson Type;

NCIt definition : An X-linked dominant condition caused by mutation(s) in the SLC9A6 gene, encoding sodium/hydrogen exchanger 6. It is characterized by intellectual disability, delayed development, and difficulty standing or walking.;

Details

Origin ID

C181001;

UMLS CUI

C2678194;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual deficit, South African type [ICD-11 More detail]
Currated CISMeF NLP mapping
- Christianson syndrome [ORDO Disease]
- Christianson syndrome [DO Concept]
- Intellectual developmental disorder, X-linked, syndromic, christianson type [OMIM Phenotype]
- X-linked intellectual developmental disorder Christianson type (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH concept]
See also inter- (CISMeF)
- mental retardation X-linked, south african type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, christianson type [OMIM Phenotype]
- X-linked intellectual developmental disorder Christianson type (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SLC9A6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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